Detalhe da pesquisa
1.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35300924
2.
Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy.
Pediatr Int
; 66(1): e15750, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38409865
3.
A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.
J Orthop Sci
; 28(6): 1501-1504, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34503898
4.
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.
Children (Basel)
; 10(8)2023 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37628339
5.
Asymmetrical Graves' disease in children: potential usefulness of potassium iodide monotherapy.
BMJ Case Rep
; 15(4)2022 Apr 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35459658
6.
Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report.
Children (Basel)
; 9(5)2022 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35626895
7.
A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity.
J Pediatr Endocrinol Metab
; 35(5): 687-690, 2022 May 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35119230
8.
Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study.
Int J Neonatal Screen
; 7(2)2021 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-34071177
9.
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
Clin Pediatr Endocrinol
; 29(3): 105-110, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32694886
10.
Hypoglycemia in type 1A diabetes can develop before insulin therapy: A retrospective cohort study.
Diabetes Res Clin Pract
; 147: 87-92, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30481577
11.
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study.
Congenit Anom (Kyoto)
; 63(4): 125-126, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37060306
12.
Carotenoderma with hypothyroidism.
Arch Dis Child
; 107(6): 615, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34772661
13.
A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.
Congenit Anom (Kyoto)
; 62(1): 47-48, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34591992
14.
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.
Congenit Anom (Kyoto)
; 61(5): 202-203, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34155696
15.
Letter to the Editor: Testosterone priming increased growth hormone peak levels in the stimulation test and suppressed gonadotropin secretion in three Japanese adolescent boys.
Clin Pediatr Endocrinol
; 29(4): 201, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33088021